Results 131 to 140 of about 31,665 (304)

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +1 more source

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]

, 2018
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K., Broers, M. R., Brouns, G. H., Coull, Barry. J., Easton, J. A., Kamps, M. A. F., Martin, P. E., Oji, V., van Geel, M., van Steensel, M. A. M.   +9 more
core   +5 more sources

Effect of a Spray Containing Occlusive Agents, Humectants and Physiological Lipids on Skin Hydration of Healthy Dogs When Applied After Bathing With a Chlorhexidine 2%/Miconazole 2% Shampoo

Veterinary Dermatology, Volume 37, Issue 1, Page 140-147, February 2026.
Background: Normal hydration of the canine epidermis is imperative for cutaneous homeostasis. Xerosis may be encountered in canine atopic dermatitis and may be aggravated by topical antiseptics. Hypothesis and Objectives: To evaluate the hydrating properties and the safety of a spray (Sensiderm spray; MP Labo) when applied after shampooing healthy dogs
Adamantia Pseftogka, Elisabeta Samuel (Badulescu), Manolis K. Chatzis, Manolis N. Saridomichelakis   +3 more
wiley   +1 more source

Proteomic analysis of a filaggrin-deficient skin organoid model shows evidence of increased transcriptional-translational activity, keratinocyte-immune crosstalk and disordered axon guidance [PDF]

, 2019
Background: Atopic eczema is an itchy inflammatory disorder characterised by skin barrier dysfunction. Loss-of-function mutations in the gene encoding filaggrin ( FLG) are a major risk factor, but the mechanisms by which filaggrin haploinsufficiency ...
A Fabregat, A Naeem, A Sandilands, A Sandilands, B Kim, C Cole, C Cole, C Finan, C Flohr, C Hausmann, C He, C Lefèvre, C Palmer, C von Mering, D Szklarczyk, D Tobin, E Hoste, E Leclerc, E Rodriguez, E van den Bogaard, E van den Bogaard, F Smith, G Denecker, G McIlroy, H Alexander, H Baurecht, H Han, H Niehues, J Bergboer, J Folch, J Silverberg, J Timmerman, K Vávrová, L Paternoster, M Elias, M Elias, M Ferreira, M Kamsteeg, M Kretz, M Visser, N Novak, P Arkwright, P Di Meglio, P Gao, R Gruber, R Gruber, R Mateu, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Johansson, S Smith, S Weidinger, T Elango, T Gil, T Matsui, V Rothhammer, V van Drongelen, W Damsky, Y Dou, Y Lee, Y Perez-Riverol, Z Xie, Z Zhu   +69 more
core   +2 more sources

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta Dermato-Venereologica, 2016
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype
M. Pigg, A. Bygum, A. Gånemo, M. Virtanen, F. Brandrup, A. Zimmer, A. Hotz, A. Vahlquist, J. Fischer   +8 more
semanticscholar   +1 more source

Dental Management in a 7-year-old Child with Ichthyosis Vulgaris: A Rare Case Report

, 2022
M Divya Banu, Krishna Priya Vellore, S Niharika   +2 more
openalex   +1 more source

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

Romanian Journal of Laboratory Medicine, 2016
Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation
Maier Dalila, Florea Adrian, Tilinca Mariana Cornelia, Zazgyva Ancuța, Cosgarea Rodica   +4 more
doaj   +1 more source

Proderm technology: a water- based lipid delivery system for dermatitis that penetrates viable epidermis and has antibacterial effects. [PDF]

, 2019
BackgroundA defective skin barrier and bacterial colonization are two important factors in maintenance and progression of atopic dermatitis and chronic allergic/irritant hand dermatitis.
Caputo-Janhager, Melinda, Charruyer, Alexandra, Ghadially, Ruby, Raymond, Isabelle, Silvander, Mats   +4 more
core   +3 more sources

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis [PDF]

, 2011
Shirli Israeli, Ziad Khamaysi, Dana Fuchs‐Telem, Janna Nousbeck, Richard N. Bergman, Ofer Sarig, Eli Sprecher   +6 more
openalex   +1 more source

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

Indian Journal of Ophthalmology, 2018
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet   +2 more
doaj   +1 more source